ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1653+10C>A

gnomAD frequency: 0.04634  dbSNP: rs73983658
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039067 SCV000062745 benign not specified 2012-04-24 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000039067 SCV000313861 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361188 SCV000402724 benign Arrhythmogenic right ventricular dysplasia 12 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000399164 SCV000402725 benign Naxos disease 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000459637 SCV000560966 benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001682734 SCV001905327 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000039067 SCV001920178 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000039067 SCV001930808 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001682734 SCV001957032 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000039067 SCV001970383 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV003125872 SCV003802974 benign Cardiomyopathy 2022-09-23 no assertion criteria provided clinical testing

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